Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1084860.RAaZGbNDxvDC-dIAvT6IFvo-BL2G9EQ_oKC91VqgQSAI8#assertion> ?p ?o ?g. }
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- assertion description "[The affected members of the Surinamese family have a severe early-onset form of autosomal recessive retinitis pigmentosa, which is caused by compound heterozygous mutations in the TULP1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 17620573 provenance.
- assertion wasDerivedFrom LHGDN provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.